Q126* (p.Gln126Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q126* (p.Gln126Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q126* (p.Gln126Ter) variant details
- p.Gln126Ter
- TOPMed rs1222421581
- gnomAD rs1222421581
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available